NM_004999.4(MYO6):c.817-21G>A
|
rs7760587
|
0.99163
|
NM_004999.4(MYO6):c.1078+237T>G
|
rs6453843
|
0.84836
|
NM_004999.4(MYO6):c.2947-255G>A
|
rs2295938
|
0.84836
|
NM_004999.4(MYO6):c.1771-122G>T
|
rs6453845
|
0.73268
|
NM_004999.4(MYO6):c.1224-80T>G
|
rs3798439
|
0.73205
|
NM_004999.4(MYO6):c.*4114T>A
|
rs7766661
|
0.72931
|
NM_004999.4(MYO6):c.261+73G>A
|
rs1280052
|
0.60764
|
NM_004999.4(MYO6):c.*3835C>T
|
rs7742137
|
0.51984
|
NM_004999.4(MYO6):c.3108-151A>G
|
rs3798427
|
0.39791
|
NM_004999.4(MYO6):c.1944+195A>T
|
rs9343325
|
0.39777
|
NM_004999.4(MYO6):c.652-92_652-91insT
|
rs370811316
|
0.39645
|
NM_004999.4(MYO6):c.*2027T>C
|
rs6914716
|
0.39546
|
NM_004999.4(MYO6):c.1078+132A>C
|
rs9359141
|
0.39285
|
NM_004999.4(MYO6):c.187+151G>A
|
rs2273859
|
0.37078
|
NM_004999.4(MYO6):c.*3940T>C
|
rs11964034
|
0.33693
|
NM_004999.4(MYO6):c.*350T>C
|
rs699186
|
0.33478
|
NM_004999.4(MYO6):c.1674+299C>T
|
rs1322551
|
0.33360
|
NM_004999.4(MYO6):c.1078+184del
|
rs11343853
|
0.33341
|
NM_004999.4(MYO6):c.3280+266A>G
|
rs9447579
|
0.33249
|
NM_004999.4(MYO6):c.2077+96T>A
|
rs9443195
|
0.33248
|
NM_004999.4(MYO6):c.2077+287A>G
|
rs1407510
|
0.33245
|
NM_004999.4(MYO6):c.2659-192C>T
|
rs17192223
|
0.22729
|
NM_004999.4(MYO6):c.2508-194C>G
|
rs17800625
|
0.22710
|
NM_004999.4(MYO6):c.3412+238T>C
|
rs62414824
|
0.22682
|
NM_004999.4(MYO6):c.2658+17C>T
|
rs2295936
|
0.22603
|
NM_004999.4(MYO6):c.1674+228A>G
|
rs11758543
|
0.22600
|
NM_004999.4(MYO6):c.*12C>T
|
rs12606
|
0.22544
|
NM_004999.4(MYO6):c.898-239A>G
|
rs62414787
|
0.22464
|
NM_004999.4(MYO6):c.*3447A>C
|
rs1341567
|
0.19296
|
NM_004999.4(MYO6):c.2417-87C>A
|
rs13211391
|
0.15431
|
NM_004999.4(MYO6):c.652-201G>A
|
rs12203461
|
0.13270
|
NM_004999.4(MYO6):c.553+11T>C
|
rs12210963
|
0.13246
|
NM_004999.4(MYO6):c.554-65A>G
|
rs12216518
|
0.13237
|
NM_004999.4(MYO6):c.817-218T>C
|
rs10943295
|
0.13225
|
NM_004999.4(MYO6):c.*459A>G
|
rs1045758
|
0.13207
|
NM_004999.4(MYO6):c.1078+110A>G
|
rs9350601
|
0.13207
|
NM_004999.4(MYO6):c.1382-223A>G
|
rs12213795
|
0.10406
|
NM_004999.4(MYO6):c.-47-247A>G
|
rs9360942
|
0.10397
|
NM_004999.4(MYO6):c.1473+150C>T
|
rs3818309
|
0.09081
|
NM_004999.4(MYO6):c.-47-182A>G
|
rs6941627
|
0.06643
|
NM_004999.4(MYO6):c.1945-121T>C
|
rs79443273
|
0.05819
|
NM_004999.4(MYO6):c.2287-292G>A
|
rs2295935
|
0.04847
|
NM_004999.4(MYO6):c.1722C>T (p.Asp574=)
|
rs11756446
|
0.04242
|
NM_004999.4(MYO6):c.*1703C>T
|
rs9360957
|
0.03977
|
NM_004999.4(MYO6):c.-47-166G>A
|
rs56338010
|
0.03912
|
NM_004999.4(MYO6):c.-48+42G>T
|
rs117153951
|
0.03044
|
NM_004999.4(MYO6):c.3177-236A>G
|
rs79951514
|
0.02285
|
NM_004999.4(MYO6):c.2416+269C>A
|
rs77915507
|
0.02211
|
NM_004999.4(MYO6):c.3303C>T (p.Cys1101=)
|
rs9443199
|
0.02151
|
NM_004999.4(MYO6):c.2867+268C>T
|
rs10081009
|
0.02150
|
NM_004999.4(MYO6):c.2867+143G>A
|
rs148855110
|
0.01988
|
NM_004999.4(MYO6):c.553+185A>G
|
rs77818820
|
0.01909
|
NM_004999.4(MYO6):c.2658+20A>C
|
rs2295937
|
0.01861
|
NM_004999.4(MYO6):c.-49C>G
|
rs149130280
|
0.01849
|
NM_004999.4(MYO6):c.3137+168A>C
|
rs115716828
|
0.01770
|
NM_004999.4(MYO6):c.2508-204A>C
|
rs115226441
|
0.01762
|
NM_004999.4(MYO6):c.2508-205A>G
|
rs78810476
|
0.01761
|
NM_004999.4(MYO6):c.1983+193T>C
|
rs11964991
|
0.01760
|
NM_004999.4(MYO6):c.2416+264C>T
|
rs78418193
|
0.01759
|
NM_004999.4(MYO6):c.1224-118A>G
|
rs7758439
|
0.01756
|
NM_004999.4(MYO6):c.*1962A>G
|
rs80199115
|
0.01750
|
NM_004999.4(MYO6):c.498-239C>T
|
rs139570949
|
0.01738
|
NM_004999.4(MYO6):c.261+31G>A
|
rs115711509
|
0.01735
|
NM_004999.4(MYO6):c.187+67T>C
|
rs114033446
|
0.01715
|
NM_004999.4(MYO6):c.*3546A>G
|
rs73751758
|
0.01688
|
NM_004999.4(MYO6):c.1547-314C>T
|
rs114602332
|
0.01634
|
NM_004999.4(MYO6):c.2658+133A>G
|
rs111493322
|
0.01485
|
NM_004999.4(MYO6):c.2867+245A>G
|
rs113678101
|
0.01392
|
NM_004999.4(MYO6):c.*1469G>T
|
rs74367845
|
0.01285
|
NM_004999.4(MYO6):c.391+158A>G
|
rs74419297
|
0.01279
|
NM_004999.4(MYO6):c.*2547G>A
|
rs148652044
|
0.01269
|
NM_004999.4(MYO6):c.1381+73T>C
|
rs41269321
|
0.01257
|
NM_004999.4(MYO6):c.1381+197A>G
|
rs3798438
|
0.01251
|
NM_004999.4(MYO6):c.1176A>G (p.Thr392=)
|
rs2273857
|
0.01200
|
NM_004999.4(MYO6):c.1675-261G>A
|
rs58184532
|
0.01130
|
NM_004999.4(MYO6):c.1984-114T>C
|
rs72654789
|
0.01118
|
NM_004999.4(MYO6):c.1473+139A>T
|
rs2273858
|
0.01117
|
NM_004999.4(MYO6):c.2078-225A>G
|
rs72654790
|
0.01117
|
NM_004999.4(MYO6):c.2417-193C>T
|
rs117325088
|
0.01117
|
NM_004999.4(MYO6):c.2508-272G>A
|
rs72654793
|
0.01115
|
NM_004999.4(MYO6):c.*3632T>G
|
rs9443200
|
0.01093
|
NM_004999.4(MYO6):c.2078-313G>A
|
rs139222118
|
0.01056
|
NM_004999.4(MYO6):c.554-79A>C
|
rs114592293
|
0.00976
|
NM_004999.4(MYO6):c.-47-157C>T
|
rs116700689
|
0.00928
|
NM_004999.4(MYO6):c.1675-268C>T
|
rs575593385
|
0.00907
|
NM_004999.4(MYO6):c.-47-175G>A
|
rs1280046
|
0.00842
|
NM_004999.4(MYO6):c.*4464C>T
|
rs79815348
|
0.00798
|
NM_004999.4(MYO6):c.3667G>A (p.Asp1223Asn)
|
rs41269323
|
0.00784
|
NM_004999.4(MYO6):c.*3509G>A
|
rs78129547
|
0.00783
|
NM_004999.4(MYO6):c.*2910T>A
|
rs140495245
|
0.00749
|
NM_004999.4(MYO6):c.1120T>C (p.Tyr374His)
|
rs61732664
|
0.00738
|
NM_004999.4(MYO6):c.-225G>C
|
rs886061759
|
0.00715
|
NM_004999.4(MYO6):c.2658+84G>A
|
rs116151844
|
0.00690
|
NM_004999.4(MYO6):c.2658+258C>T
|
rs115015775
|
0.00686
|
NM_004999.4(MYO6):c.2077+169T>C
|
rs113821839
|
0.00635
|
NM_004999.4(MYO6):c.1382-48A>G
|
rs45463793
|
0.00604
|
NM_004999.4(MYO6):c.*3288T>C
|
rs118121148
|
0.00533
|
NM_004999.4(MYO6):c.3333G>A (p.Val1111=)
|
rs114970874
|
0.00506
|
NM_004999.4(MYO6):c.816+257A>G
|
rs189737317
|
0.00498
|
NM_004999.4(MYO6):c.1381+167_1381+171del
|
rs560466966
|
0.00497
|
NM_004999.4(MYO6):c.2982G>A (p.Glu994=)
|
rs55905349
|
0.00487
|
NM_004999.4(MYO6):c.1656G>A (p.Lys552=)
|
rs111033431
|
0.00479
|
NM_004999.4(MYO6):c.3246T>C (p.Tyr1082=)
|
rs138437852
|
0.00470
|
NM_004999.4(MYO6):c.1473+67T>C
|
rs113300962
|
0.00448
|
NM_004999.4(MYO6):c.1674+13A>G
|
rs6925845
|
0.00447
|
NM_004999.4(MYO6):c.261+129G>C
|
rs113576831
|
0.00445
|
NM_004999.4(MYO6):c.262-21G>A
|
rs79662925
|
0.00443
|
NM_004999.4(MYO6):c.3177-294A>G
|
rs113462945
|
0.00438
|
NM_004999.4(MYO6):c.*1006A>G
|
rs113791186
|
0.00430
|
NM_004999.4(MYO6):c.2659-47A>G
|
rs113353486
|
0.00424
|
NM_004999.4(MYO6):c.3824A>G (p.Tyr1275Cys)
|
rs146461956
|
0.00424
|
NM_004999.4(MYO6):c.*2396A>G
|
rs147620639
|
0.00423
|
NM_004999.4(MYO6):c.3439+282A>G
|
rs76147147
|
0.00384
|
NM_004999.4(MYO6):c.1675-187T>G
|
rs191349476
|
0.00381
|
NM_004999.4(MYO6):c.2867+37A>G
|
rs59244460
|
0.00380
|
NM_004999.4(MYO6):c.*1324A>G
|
rs191987417
|
0.00357
|
NM_004999.4(MYO6):c.*2716A>G
|
rs188568413
|
0.00357
|
NM_004999.4(MYO6):c.*1607C>T
|
rs77813459
|
0.00356
|
NM_004999.4(MYO6):c.897+238C>T
|
rs3756903
|
0.00355
|
NM_004999.4(MYO6):c.652-216G>T
|
rs111480295
|
0.00351
|
NM_004999.4(MYO6):c.*4481T>C
|
rs142744723
|
0.00350
|
NM_004999.4(MYO6):c.1674+266G>A
|
rs6453844
|
0.00329
|
NM_004999.4(MYO6):c.2417-2064T>C
|
rs530086641
|
0.00328
|
NM_004999.4(MYO6):c.2416+235A>G
|
rs529749344
|
0.00326
|
NM_004999.4(MYO6):c.2534C>T (p.Thr845Ile)
|
rs55662069
|
0.00322
|
NM_004999.4(MYO6):c.1224-316A>G
|
rs111545804
|
0.00317
|
NM_004999.4(MYO6):c.554-261G>T
|
rs111376920
|
0.00311
|
NM_004999.4(MYO6):c.554-191C>T
|
rs111567888
|
0.00310
|
NM_004999.4(MYO6):c.652-223G>A
|
rs112510570
|
0.00310
|
NM_004999.4(MYO6):c.*2535_*2538dup
|
rs149527616
|
0.00304
|
NM_004999.4(MYO6):c.*1287T>A
|
rs570884031
|
0.00292
|
NM_004999.4(MYO6):c.*1627A>G
|
rs147347025
|
0.00273
|
NM_004999.4(MYO6):c.3563A>G (p.Lys1188Arg)
|
rs61734891
|
0.00266
|
NM_004999.4(MYO6):c.1224-4A>G
|
rs144031818
|
0.00238
|
NM_004999.4(MYO6):c.*3914T>C
|
rs541767003
|
0.00228
|
NM_004999.4(MYO6):c.2635G>A (p.Asp879Asn)
|
rs60970824
|
0.00175
|
NM_004999.4(MYO6):c.1771-48T>C
|
rs114589661
|
0.00174
|
NM_004999.4(MYO6):c.*301G>A
|
rs116215208
|
0.00173
|
NM_004999.4(MYO6):c.*4095G>A
|
rs185154265
|
0.00151
|
NM_004999.4(MYO6):c.*2759C>A
|
rs142353235
|
0.00140
|
NM_004999.4(MYO6):c.2517T>C (p.Gly839=)
|
rs112597191
|
0.00135
|
NM_004999.4(MYO6):c.1144G>A (p.Asp382Asn)
|
rs111530469
|
0.00134
|
NM_004999.4(MYO6):c.*303A>G
|
rs146133231
|
0.00128
|
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val)
|
rs145564837
|
0.00128
|
NM_004999.4(MYO6):c.2595C>T (p.Pro865=)
|
rs150876010
|
0.00124
|
NM_004999.4(MYO6):c.3137+45T>A
|
rs199995052
|
0.00111
|
NM_004999.4(MYO6):c.*3879G>A
|
rs189646143
|
0.00105
|
NM_004999.4(MYO6):c.2078-19T>C
|
rs188730005
|
0.00105
|
NM_004999.4(MYO6):c.3530G>A (p.Arg1177His)
|
rs139664153
|
0.00099
|
NM_004999.4(MYO6):c.2659-26G>A
|
rs370128958
|
0.00098
|
NM_004999.4(MYO6):c.1944+31A>G
|
rs199620053
|
0.00096
|
NM_004999.4(MYO6):c.92T>C (p.Ile31Thr)
|
rs148735953
|
0.00093
|
NM_004999.4(MYO6):c.*1785A>C
|
rs139803503
|
0.00090
|
NM_004999.4(MYO6):c.*3846G>A
|
rs538108588
|
0.00088
|
NM_004999.4(MYO6):c.2175A>G (p.Lys725=)
|
rs116571790
|
0.00088
|
NM_004999.4(MYO6):c.*4287C>T
|
rs73751759
|
0.00085
|
NM_004999.4(MYO6):c.3107+29G>A
|
rs201488990
|
0.00081
|
NM_004999.4(MYO6):c.2416+51T>C
|
rs371098321
|
0.00074
|
NM_004999.4(MYO6):c.*1522C>T
|
rs149257535
|
0.00071
|
NM_004999.4(MYO6):c.3529C>T (p.Arg1177Cys)
|
rs146419641
|
0.00069
|
NM_004999.4(MYO6):c.*3829T>C
|
rs62414825
|
0.00068
|
NM_004999.4(MYO6):c.*4032G>A
|
rs373146837
|
0.00068
|
NM_004999.4(MYO6):c.875T>C (p.Leu292Ser)
|
rs144038082
|
0.00056
|
NM_004999.4(MYO6):c.1030G>A (p.Val344Ile)
|
rs199798449
|
0.00052
|
NM_004999.4(MYO6):c.1546+6T>C
|
rs199999513
|
0.00052
|
NM_004999.4(MYO6):c.*1232C>T
|
rs182487428
|
0.00051
|
NM_004999.4(MYO6):c.*511G>A
|
rs753019749
|
0.00045
|
NM_004999.4(MYO6):c.*1847A>G
|
rs886061770
|
0.00043
|
NM_004999.4(MYO6):c.1182C>A (p.Val394=)
|
rs145568584
|
0.00040
|
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys)
|
rs141845119
|
0.00039
|
NM_004999.4(MYO6):c.*3230T>C
|
rs562815854
|
0.00038
|
NM_004999.4(MYO6):c.18C>T (p.Pro6=)
|
rs138024490
|
0.00035
|
NM_004999.4(MYO6):c.*263T>C
|
rs552963186
|
0.00032
|
NM_004999.4(MYO6):c.*3874G>A
|
rs187631847
|
0.00032
|
NM_004999.4(MYO6):c.52A>G (p.Met18Val)
|
rs142516093
|
0.00030
|
NM_004999.4(MYO6):c.*1925A>G
|
rs912042329
|
0.00029
|
NM_004999.4(MYO6):c.*4288G>A
|
rs570588843
|
0.00029
|
NM_004999.4(MYO6):c.*4446A>G
|
rs148227849
|
0.00029
|
NM_004999.4(MYO6):c.*1738A>G
|
rs193019967
|
0.00028
|
NM_004999.4(MYO6):c.898-51T>A
|
rs189536718
|
0.00028
|
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys)
|
rs201507590
|
0.00026
|
NM_004999.4(MYO6):c.*1884A>C
|
rs562636905
|
0.00025
|
NM_004999.4(MYO6):c.1770+21G>T
|
rs368430877
|
0.00025
|
NM_004999.4(MYO6):c.*4428A>G
|
rs574549669
|
0.00024
|
NM_004999.4(MYO6):c.3483G>A (p.Glu1161=)
|
rs139174622
|
0.00024
|
NM_004999.4(MYO6):c.*2996A>G
|
rs536099586
|
0.00021
|
NM_004999.4(MYO6):c.262-9C>T
|
rs187811833
|
0.00021
|
NM_004999.4(MYO6):c.*3660C>T
|
rs774736565
|
0.00020
|
NM_004999.4(MYO6):c.3176G>C (p.Arg1059Thr)
|
rs202214380
|
0.00020
|
NM_004999.4(MYO6):c.*1889A>G
|
rs189155544
|
0.00018
|
NM_004999.4(MYO6):c.*3834G>A
|
rs886061779
|
0.00018
|
NM_004999.4(MYO6):c.*2346A>G
|
rs745897280
|
0.00017
|
NM_004999.4(MYO6):c.188-3T>C
|
rs373199401
|
0.00017
|
NM_004999.4(MYO6):c.262-12T>G
|
rs368072756
|
0.00017
|
NM_004999.4(MYO6):c.1224-15A>G
|
rs376927352
|
0.00016
|
NM_004999.4(MYO6):c.1674+40G>A
|
rs202233043
|
0.00016
|
NM_004999.4(MYO6):c.*4030G>A
|
rs746829763
|
0.00014
|
NM_004999.4(MYO6):c.2472T>G (p.Ile824Met)
|
rs368132510
|
0.00014
|
NM_004999.4(MYO6):c.2665A>G (p.Met889Val)
|
rs727505098
|
0.00014
|
NM_004999.4(MYO6):c.26C>T (p.Ala9Val)
|
rs199508553
|
0.00014
|
NM_004999.4(MYO6):c.271G>A (p.Ala91Thr)
|
rs573770611
|
0.00013
|
NM_004999.4(MYO6):c.553+13T>A
|
rs369806112
|
0.00013
|
NM_004999.4(MYO6):c.2616G>T (p.Lys872Asn)
|
rs139542573
|
0.00012
|
NM_004999.4(MYO6):c.441C>T (p.Ile147=)
|
rs565770950
|
0.00012
|
NM_004999.4(MYO6):c.*3890G>A
|
rs574818180
|
0.00011
|
NM_004999.4(MYO6):c.3393A>G (p.Pro1131=)
|
rs768505655
|
0.00011
|
NM_004999.4(MYO6):c.600C>T (p.Asn200=)
|
rs145665265
|
0.00011
|
NM_004999.4(MYO6):c.*4506T>C
|
rs766637637
|
0.00009
|
NM_004999.4(MYO6):c.*311T>C
|
rs886061765
|
0.00008
|
NM_004999.4(MYO6):c.1767A>G (p.Glu589=)
|
rs547890149
|
0.00008
|
NM_004999.4(MYO6):c.*1335G>A
|
rs942079896
|
0.00007
|
NM_004999.4(MYO6):c.2357A>G (p.His786Arg)
|
rs780037124
|
0.00007
|
NM_004999.4(MYO6):c.3439C>T (p.Pro1147Ser)
|
rs748774373
|
0.00007
|
NM_004999.4(MYO6):c.3791A>G (p.Asn1264Ser)
|
rs367978681
|
0.00007
|
NM_004999.4(MYO6):c.1180G>A (p.Val394Ile)
|
rs373519764
|
0.00006
|
NM_004999.4(MYO6):c.1589A>T (p.Asp530Val)
|
rs373929865
|
0.00006
|
NM_004999.4(MYO6):c.1748C>T (p.Ala583Val)
|
rs766684928
|
0.00006
|
NM_004999.4(MYO6):c.2342T>A (p.Val781Asp)
|
rs750880162
|
0.00006
|
NM_004999.4(MYO6):c.2672C>T (p.Thr891Met)
|
rs146682372
|
0.00006
|
NM_004999.4(MYO6):c.2818C>T (p.Arg940Cys)
|
rs200205409
|
0.00006
|
NM_004999.4(MYO6):c.3138-13G>A
|
rs745986505
|
0.00006
|
NM_004999.4(MYO6):c.3269A>G (p.Asn1090Ser)
|
rs368097606
|
0.00006
|
NM_004999.4(MYO6):c.3367A>G (p.Asn1123Asp)
|
rs189411232
|
0.00006
|
NM_004999.4(MYO6):c.3537C>T (p.Ala1179=)
|
rs371212410
|
0.00006
|
NM_004999.4(MYO6):c.3514C>T (p.Arg1172Cys)
|
rs752568854
|
0.00005
|
NM_004999.4(MYO6):c.553+10A>G
|
rs188959117
|
0.00005
|
NM_004999.4(MYO6):c.966G>A (p.Thr322=)
|
rs375754710
|
0.00005
|
NM_004999.4(MYO6):c.*1181G>A
|
rs769731324
|
0.00004
|
NM_004999.4(MYO6):c.*1284T>G
|
rs546877472
|
0.00004
|
NM_004999.4(MYO6):c.*2146A>C
|
rs1005102784
|
0.00004
|
NM_004999.4(MYO6):c.*305T>C
|
rs1050868572
|
0.00004
|
NM_004999.4(MYO6):c.*362A>G
|
rs886061766
|
0.00004
|
NM_004999.4(MYO6):c.*692C>A
|
rs1054285205
|
0.00004
|
NM_004999.4(MYO6):c.*860G>T
|
rs570922846
|
0.00004
|
NM_004999.4(MYO6):c.1029C>T (p.Gly343=)
|
rs752948085
|
0.00004
|
NM_004999.4(MYO6):c.1658A>T (p.Asp553Val)
|
rs376562219
|
0.00004
|
NM_004999.4(MYO6):c.1926C>T (p.Ser642=)
|
rs184784079
|
0.00004
|
NM_004999.4(MYO6):c.2946+10T>C
|
rs371745279
|
0.00004
|
NM_004999.4(MYO6):c.2947-39T>G
|
rs527787322
|
0.00004
|
NM_004999.4(MYO6):c.3029G>A (p.Arg1010Gln)
|
rs374966499
|
0.00004
|
NM_004999.4(MYO6):c.3107+11C>T
|
rs201968938
|
0.00004
|
NM_004999.4(MYO6):c.3439+1G>A
|
rs146219669
|
0.00004
|
NM_004999.4(MYO6):c.3755T>A (p.Ile1252Asn)
|
rs773042864
|
0.00004
|
NM_004999.4(MYO6):c.3814C>T (p.Arg1272Trp)
|
rs199699596
|
0.00004
|
NM_004999.4(MYO6):c.45A>G (p.Gly15=)
|
rs758200740
|
0.00004
|
NM_004999.4(MYO6):c.596G>A (p.Arg199His)
|
rs140235734
|
0.00004
|
NM_004999.4(MYO6):c.91A>G (p.Ile31Val)
|
rs775035511
|
0.00004
|
NM_004999.4(MYO6):c.*3029A>G
|
rs886061775
|
0.00003
|
NM_004999.4(MYO6):c.*3973A>G
|
rs886061780
|
0.00003
|
NM_004999.4(MYO6):c.140A>G (p.Gln47Arg)
|
rs576924704
|
0.00003
|
NM_004999.4(MYO6):c.1607C>T (p.Pro536Leu)
|
rs980820643
|
0.00003
|
NM_004999.4(MYO6):c.1631C>T (p.Thr544Ile)
|
rs371944427
|
0.00003
|
NM_004999.4(MYO6):c.163A>G (p.Ser55Gly)
|
rs774802052
|
0.00003
|
NM_004999.4(MYO6):c.1939T>G (p.Phe647Val)
|
rs752585373
|
0.00003
|
NM_004999.4(MYO6):c.2020A>G (p.Lys674Glu)
|
rs374247860
|
0.00003
|
NM_004999.4(MYO6):c.2039T>C (p.Phe680Ser)
|
rs372399868
|
0.00003
|
NM_004999.4(MYO6):c.2552A>C (p.Asp851Ala)
|
rs142423106
|
0.00003
|
NM_004999.4(MYO6):c.2716T>C (p.Ser906Pro)
|
rs727505048
|
0.00003
|
NM_004999.4(MYO6):c.3171G>C (p.Leu1057Phe)
|
rs762612311
|
0.00003
|
NM_004999.4(MYO6):c.3236A>G (p.Lys1079Arg)
|
rs753378509
|
0.00003
|
NM_004999.4(MYO6):c.3386G>A (p.Arg1129His)
|
rs779885818
|
0.00003
|
NM_004999.4(MYO6):c.3637C>T (p.Pro1213Ser)
|
rs749985011
|
0.00003
|
NM_004999.4(MYO6):c.3679T>C (p.Cys1227Arg)
|
rs370061746
|
0.00003
|
NM_004999.4(MYO6):c.406C>A (p.Arg136=)
|
rs758630450
|
0.00003
|
NM_004999.4(MYO6):c.*2688A>G
|
rs982469853
|
0.00002
|
NM_004999.4(MYO6):c.1224-31G>T
|
rs768918981
|
0.00002
|
NM_004999.4(MYO6):c.189T>G (p.Cys63Trp)
|
rs768643110
|
0.00002
|
NM_004999.4(MYO6):c.1945-16T>C
|
rs373824667
|
0.00002
|
NM_004999.4(MYO6):c.217C>G (p.Leu73Val)
|
rs759372006
|
0.00002
|
NM_004999.4(MYO6):c.2309T>C (p.Met770Thr)
|
rs202216621
|
0.00002
|
NM_004999.4(MYO6):c.2515G>A (p.Gly839Ser)
|
rs1352587099
|
0.00002
|
NM_004999.4(MYO6):c.270C>T (p.Val90=)
|
rs376613843
|
0.00002
|
NM_004999.4(MYO6):c.27G>A (p.Ala9=)
|
rs767670766
|
0.00002
|
NM_004999.4(MYO6):c.2926G>T (p.Asp976Tyr)
|
rs201168408
|
0.00002
|
NM_004999.4(MYO6):c.297A>G (p.Pro99=)
|
rs375790985
|
0.00002
|
NM_004999.4(MYO6):c.3019C>T (p.Arg1007Cys)
|
rs143152727
|
0.00002
|
NM_004999.4(MYO6):c.3035T>C (p.Leu1012Pro)
|
rs757332098
|
0.00002
|
NM_004999.4(MYO6):c.3098C>T (p.Ala1033Val)
|
rs147066544
|
0.00002
|
NM_004999.4(MYO6):c.3505C>T (p.Arg1169Cys)
|
rs144006872
|
0.00002
|
NM_004999.4(MYO6):c.3659-10A>G
|
rs765929647
|
0.00002
|
NM_004999.4(MYO6):c.3719G>A (p.Arg1240His)
|
rs772457315
|
0.00002
|
NM_004999.4(MYO6):c.61A>T (p.Ile21Phe)
|
rs546375259
|
0.00002
|
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter)
|
rs727503326
|
0.00002
|
NM_004999.4(MYO6):c.*1030T>C
|
rs886061767
|
0.00001
|
NM_004999.4(MYO6):c.*2410T>C
|
rs1475834409
|
0.00001
|
NM_004999.4(MYO6):c.*2572A>C
|
rs1338857560
|
0.00001
|
NM_004999.4(MYO6):c.*3032C>T
|
rs1028807508
|
0.00001
|
NM_004999.4(MYO6):c.*3064A>G
|
rs1455253489
|
0.00001
|
NM_004999.4(MYO6):c.*3364A>G
|
rs1457788079
|
0.00001
|
NM_004999.4(MYO6):c.*34T>G
|
rs1562323292
|
0.00001
|
NM_004999.4(MYO6):c.*3524A>G
|
rs886061778
|
0.00001
|
NM_004999.4(MYO6):c.*3549C>T
|
rs1414053280
|
0.00001
|
NM_004999.4(MYO6):c.*3926T>C
|
rs1296097210
|
0.00001
|
NM_004999.4(MYO6):c.*4196T>C
|
rs1168354848
|
0.00001
|
NM_004999.4(MYO6):c.1049T>C (p.Ile350Thr)
|
rs377470568
|
0.00001
|
NM_004999.4(MYO6):c.1079-5A>G
|
rs774020683
|
0.00001
|
NM_004999.4(MYO6):c.1159C>T (p.Arg387Ter)
|
rs766700803
|
0.00001
|
NM_004999.4(MYO6):c.1160G>A (p.Arg387Gln)
|
rs752489259
|
0.00001
|
NM_004999.4(MYO6):c.1212A>G (p.Gly404=)
|
rs397517044
|
0.00001
|
NM_004999.4(MYO6):c.1234A>G (p.Lys412Glu)
|
rs1379950750
|
0.00001
|
NM_004999.4(MYO6):c.1667G>A (p.Arg556Gln)
|
rs760293058
|
0.00001
|
NM_004999.4(MYO6):c.1674+5G>A
|
rs761306925
|
0.00001
|
NM_004999.4(MYO6):c.178G>C (p.Glu60Gln)
|
rs757420692
|
0.00001
|
NM_004999.4(MYO6):c.1853G>A (p.Arg618Gln)
|
rs777201018
|
0.00001
|
NM_004999.4(MYO6):c.1960C>A (p.Leu654Ile)
|
rs890026684
|
0.00001
|
NM_004999.4(MYO6):c.2000G>A (p.Arg667His)
|
rs781769307
|
0.00001
|
NM_004999.4(MYO6):c.2014A>G (p.Asn672Asp)
|
rs1436084356
|
0.00001
|
NM_004999.4(MYO6):c.2151G>T (p.Met717Ile)
|
rs1409808281
|
0.00001
|
NM_004999.4(MYO6):c.2162A>G (p.Tyr721Cys)
|
rs1777881219
|
0.00001
|
NM_004999.4(MYO6):c.2286+8T>C
|
rs780274416
|
0.00001
|
NM_004999.4(MYO6):c.2337G>A (p.Glu779=)
|
rs762207024
|
0.00001
|
NM_004999.4(MYO6):c.2359T>C (p.Trp787Arg)
|
rs1344197751
|
0.00001
|
NM_004999.4(MYO6):c.238C>T (p.Arg80Ter)
|
rs727504567
|
0.00001
|
NM_004999.4(MYO6):c.2507G>A (p.Arg836His)
|
rs876657909
|
0.00001
|
NM_004999.4(MYO6):c.2508C>T (p.Arg836=)
|
rs1194065369
|
0.00001
|
NM_004999.4(MYO6):c.2545C>T (p.Arg849Ter)
|
rs121912561
|
0.00001
|
NM_004999.4(MYO6):c.2658+8A>G
|
rs397517048
|
0.00001
|
NM_004999.4(MYO6):c.2659T>A (p.Ser887Thr)
|
rs1409939234
|
0.00001
|
NM_004999.4(MYO6):c.2837G>A (p.Arg946His)
|
rs781754117
|
0.00001
|
NM_004999.4(MYO6):c.287C>T (p.Ala96Val)
|
rs749522327
|
0.00001
|
NM_004999.4(MYO6):c.2974C>T (p.Gln992Ter)
|
rs1778981404
|
0.00001
|
NM_004999.4(MYO6):c.3057T>G (p.Ser1019Arg)
|
rs372968228
|
0.00001
|
NM_004999.4(MYO6):c.3137+5G>A
|
rs397517050
|
0.00001
|
NM_004999.4(MYO6):c.3177-5T>C
|
rs1335496279
|
0.00001
|
NM_004999.4(MYO6):c.3338A>T (p.His1113Leu)
|
rs755485724
|
0.00001
|
NM_004999.4(MYO6):c.3384A>G (p.Gln1128=)
|
rs397517051
|
0.00001
|
NM_004999.4(MYO6):c.3496C>T (p.Arg1166Ter)
|
rs121912558
|
0.00001
|
NM_004999.4(MYO6):c.3515G>A (p.Arg1172His)
|
rs1554223761
|
0.00001
|
NM_004999.4(MYO6):c.3538G>A (p.Asp1180Asn)
|
rs779535270
|
0.00001
|
NM_004999.4(MYO6):c.3597A>G (p.Gly1199=)
|
rs751775864
|
0.00001
|
NM_004999.4(MYO6):c.3704G>T (p.Gly1235Val)
|
rs199728355
|
0.00001
|
NM_004999.4(MYO6):c.3823dup (p.Tyr1275fs)
|
rs746038889
|
0.00001
|
NM_004999.4(MYO6):c.392C>T (p.Ala131Val)
|
rs1259894372
|
0.00001
|
NM_004999.4(MYO6):c.438T>C (p.Ser146=)
|
rs1773255262
|
0.00001
|
NM_004999.4(MYO6):c.465C>T (p.Ala155=)
|
rs200963569
|
0.00001
|
NM_004999.4(MYO6):c.498-11A>G
|
rs749261743
|
0.00001
|
NM_004999.4(MYO6):c.564C>T (p.Leu188=)
|
rs750374337
|
0.00001
|
NM_004999.4(MYO6):c.647A>T (p.Glu216Val)
|
rs121912559
|
0.00001
|
NM_004999.4(MYO6):c.679C>T (p.His227Tyr)
|
rs930430931
|
0.00001
|
NM_004999.4(MYO6):c.685C>T (p.Leu229Phe)
|
rs1301010120
|
0.00001
|
NM_004999.4(MYO6):c.755G>A (p.Cys252Tyr)
|
rs777614964
|
0.00001
|
NM_004999.4(MYO6):c.887A>G (p.Lys296Arg)
|
rs1402918571
|
0.00001
|
NM_004999.4(MYO6):c.908C>T (p.Ala303Val)
|
rs776690609
|
0.00001
|
GRCh37/hg19 6q14.1(chr6:76545618-76545673)x1
|
|
|
NC_000006.11:g.(?_76527265)_(76542684_?)dup
|
|
|
NC_000006.11:g.(?_76540113)_(76542684_?)dup
|
|
|
NM_004999.4(MYO6):c.*1011T>A
|
rs1781098790
|
|
NM_004999.4(MYO6):c.*1139del
|
rs3834289
|
|
NM_004999.4(MYO6):c.*1441TAAAT[1]
|
rs886061769
|
|
NM_004999.4(MYO6):c.*148T>C
|
rs886061764
|
|
NM_004999.4(MYO6):c.*1528C>T
|
rs188719640
|
|
NM_004999.4(MYO6):c.*186A>G
|
rs571307356
|
|
NM_004999.4(MYO6):c.*2029del
|
rs886061771
|
|
NM_004999.4(MYO6):c.*2276A>G
|
rs1464248220
|
|
NM_004999.4(MYO6):c.*2497A>G
|
rs886061772
|
|
NM_004999.4(MYO6):c.*2838T>G
|
rs1781202815
|
|
NM_004999.4(MYO6):c.*2873T>C
|
rs1781205454
|
|
NM_004999.4(MYO6):c.*2881_*2882del
|
rs397812617
|
|
NM_004999.4(MYO6):c.*2882del
|
rs397812617
|
|
NM_004999.4(MYO6):c.*2976C>T
|
rs1781211562
|
|
NM_004999.4(MYO6):c.*3039A>G
|
rs540365866
|
|
NM_004999.4(MYO6):c.*3296G>T
|
rs7741414
|
|
NM_004999.4(MYO6):c.*3297G>C
|
rs888964790
|
|
NM_004999.4(MYO6):c.*3301del
|
rs199966180
|
|
NM_004999.4(MYO6):c.*3473del
|
rs886061777
|
|
NM_004999.4(MYO6):c.*3475G>A
|
rs771776668
|
|
NM_004999.4(MYO6):c.*3824A>C
|
rs1781270510
|
|
NM_004999.4(MYO6):c.*401A>G
|
rs200014336
|
|
NM_004999.4(MYO6):c.*4056G>A
|
rs182280217
|
|
NM_004999.4(MYO6):c.*4113dup
|
rs138193115
|
|
NM_004999.4(MYO6):c.*4283A>G
|
rs7746476
|
|
NM_004999.4(MYO6):c.*4283A>T
|
rs7746476
|
|
NM_004999.4(MYO6):c.*429T>C
|
rs1781071721
|
|
NM_004999.4(MYO6):c.*4423AATT[1]
|
rs10547766
|
|
NM_004999.4(MYO6):c.*4495AAAT[4]
|
rs574841371
|
|
NM_004999.4(MYO6):c.*650G>C
|
rs191856462
|
|
NM_004999.4(MYO6):c.*875C>T
|
rs184099248
|
|
NM_004999.4(MYO6):c.-12CCT[1]
|
rs727504951
|
|
NM_004999.4(MYO6):c.-185G>T
|
rs566419666
|
|
NM_004999.4(MYO6):c.-19C>A
|
rs746580223
|
|
NM_004999.4(MYO6):c.-47-179dup
|
rs759910571
|
|
NM_004999.4(MYO6):c.-47-182_-47-179dup
|
rs759910571
|
|
NM_004999.4(MYO6):c.-47-183_-47-179dup
|
rs759910571
|
|
NM_004999.4(MYO6):c.-47-197C>A
|
rs890890661
|
|
NM_004999.4(MYO6):c.-47-3C>G
|
|
|
NM_004999.4(MYO6):c.1015C>T (p.Arg339Trp)
|
rs1443534092
|
|
NM_004999.4(MYO6):c.103A>T (p.Asn35Tyr)
|
|
|
NM_004999.4(MYO6):c.1073C>T (p.Thr358Ile)
|
|
|
NM_004999.4(MYO6):c.1078+12A>G
|
|
|
NM_004999.4(MYO6):c.1078+19dup
|
rs144408691
|
|
NM_004999.4(MYO6):c.1078+6C>T
|
|
|
NM_004999.4(MYO6):c.1079G>A (p.Gly360Asp)
|
|
|
NM_004999.4(MYO6):c.1095G>A (p.Lys365=)
|
|
|
NM_004999.4(MYO6):c.1115T>C (p.Leu372Ser)
|
|
|
NM_004999.4(MYO6):c.1125del (p.Cys375fs)
|
|
|
NM_004999.4(MYO6):c.1128T>C (p.Ala376=)
|
rs1583282758
|
|
NM_004999.4(MYO6):c.1139G>C (p.Gly380Ala)
|
|
|
NM_004999.4(MYO6):c.1139G>T (p.Gly380Val)
|
|
|
NM_004999.4(MYO6):c.1156C>T (p.Leu386Phe)
|
|
|
NM_004999.4(MYO6):c.1161A>G (p.Arg387=)
|
|
|
NM_004999.4(MYO6):c.117+11C>T
|
|
|
NM_004999.4(MYO6):c.1178G>T (p.Arg393Ile)
|
rs1775638556
|
|
NM_004999.4(MYO6):c.118-261_118-259del
|
rs144524315
|
|
NM_004999.4(MYO6):c.1193C>T (p.Thr398Ile)
|
|
|
NM_004999.4(MYO6):c.1199G>A (p.Gly400Glu)
|
rs886061761
|
|
NM_004999.4(MYO6):c.1216G>A (p.Val406Ile)
|
rs377562418
|
|
NM_004999.4(MYO6):c.1216G>C (p.Val406Leu)
|
|
|
NM_004999.4(MYO6):c.1223+16A>T
|
rs974546034
|
|
NM_004999.4(MYO6):c.1238T>C (p.Val413Ala)
|
|
|
NM_004999.4(MYO6):c.1250A>G (p.Asn417Ser)
|
rs1554210769
|
|
NM_004999.4(MYO6):c.1264G>A (p.Ala422Thr)
|
rs1583287198
|
|
NM_004999.4(MYO6):c.1283A>G (p.Tyr428Cys)
|
|
|
NM_004999.4(MYO6):c.1291C>T (p.Leu431Phe)
|
|
|
NM_004999.4(MYO6):c.1295T>C (p.Phe432Ser)
|
rs2149283139
|
|
NM_004999.4(MYO6):c.1325G>A (p.Cys442Tyr)
|
rs121912557
|
|
NM_004999.4(MYO6):c.1376G>C (p.Gly459Ala)
|
|
|
NM_004999.4(MYO6):c.1383G>C (p.Glu461Asp)
|
rs727504548
|
|
NM_004999.4(MYO6):c.1383_1385del (p.Glu461_Tyr462delinsAsp)
|
|
|
NM_004999.4(MYO6):c.1397A>T (p.Asn466Ile)
|
|
|
NM_004999.4(MYO6):c.1405G>A (p.Glu469Lys)
|
|
|
NM_004999.4(MYO6):c.1441CAA[1] (p.Gln482del)
|
|
|
NM_004999.4(MYO6):c.1442A>C (p.Gln481Pro)
|
|
|
NM_004999.4(MYO6):c.1447T>A (p.Phe483Ile)
|
|
|
NM_004999.4(MYO6):c.1452_1453insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGTCTTCAACAATTTTTT (p.Asn485delinsPhePhePhePhePhePheXaaXaaXaaXaaGluGlyGluGlyGluGlyGluGlyGluGlyGluGlyGluGlyGluGlyGluGlyGluSerSerThrIlePheTer)
|
|
|
NM_004999.4(MYO6):c.1452dup (p.Asn485Ter)
|
rs1775958137
|
|
NM_004999.4(MYO6):c.1473+10A>G
|
rs876657531
|
|
NM_004999.4(MYO6):c.1473+1G>A
|
rs2149288272
|
|
NM_004999.4(MYO6):c.1473_1473+2delinsC
|
rs878853225
|
|
NM_004999.4(MYO6):c.1474-12T>C
|
|
|
NM_004999.4(MYO6):c.1477C>A (p.Gln493Lys)
|
rs759114945
|
|
NM_004999.4(MYO6):c.1477C>G (p.Gln493Glu)
|
|
|
NM_004999.4(MYO6):c.1516G>T (p.Val506Leu)
|
rs1554211583
|
|
NM_004999.4(MYO6):c.1546+7_1546+8del
|
rs3831003
|
|
NM_004999.4(MYO6):c.1547-252A>G
|
rs3798437
|
|
NM_004999.4(MYO6):c.1578G>A (p.Leu526=)
|
|
|
NM_004999.4(MYO6):c.1627T>C (p.Phe543Leu)
|
|
|
NM_004999.4(MYO6):c.162C>G (p.Asp54Glu)
|
|
|
NM_004999.4(MYO6):c.166A>G (p.Lys56Glu)
|
rs1344780366
|
|
NM_004999.4(MYO6):c.1675-18A>G
|
|
|
NM_004999.4(MYO6):c.1675-239_1675-238insGGTG
|
rs377636351
|
|
NM_004999.4(MYO6):c.1675-239_1675-238insGGTGTGTG
|
rs562112068
|
|
NM_004999.4(MYO6):c.1675-239_1675-238insGGTGTGTGTG
|
rs773297070
|
|
NM_004999.4(MYO6):c.1675-250TG[15]
|
rs10687890
|
|
NM_004999.4(MYO6):c.1675-250TG[17]
|
rs10687890
|
|
NM_004999.4(MYO6):c.1675-250TG[18]
|
rs10687890
|
|
NM_004999.4(MYO6):c.1675-250TG[19]
|
rs10687890
|
|
NM_004999.4(MYO6):c.1675-250TG[20]
|
rs10687890
|
|
NM_004999.4(MYO6):c.1675-250TG[21]
|
rs10687890
|
|
NM_004999.4(MYO6):c.1692G>C (p.Lys564Asn)
|
rs1776713738
|
|
NM_004999.4(MYO6):c.1695G>C (p.Leu565=)
|
rs111033501
|
|
NM_004999.4(MYO6):c.1719C>A (p.Asp573Glu)
|
rs776073744
|
|
NM_004999.4(MYO6):c.1733T>A (p.Ile578Asn)
|
|
|
NM_004999.4(MYO6):c.1747G>A (p.Ala583Thr)
|
|
|
NM_004999.4(MYO6):c.1749G>A (p.Ala583=)
|
|
|
NM_004999.4(MYO6):c.1749G>T (p.Ala583=)
|
|
|
NM_004999.4(MYO6):c.1756G>C (p.Val586Leu)
|
rs1776720096
|
|
NM_004999.4(MYO6):c.1770+3G>A
|
|
|
NM_004999.4(MYO6):c.1772C>T (p.Thr591Ile)
|
|
|
NM_004999.4(MYO6):c.1785G>T (p.Glu595Asp)
|
|
|
NM_004999.4(MYO6):c.1808T>C (p.Met603Thr)
|
|
|
NM_004999.4(MYO6):c.1837A>G (p.Arg613Gly)
|
rs781019390
|
|
NM_004999.4(MYO6):c.1852C>T (p.Arg618Trp)
|
|
|
NM_004999.4(MYO6):c.1858T>G (p.Leu620Val)
|
|
|
NM_004999.4(MYO6):c.1859T>A (p.Leu620Ter)
|
rs2149312917
|
|
NM_004999.4(MYO6):c.1866A>G (p.Glu622=)
|
|
|
NM_004999.4(MYO6):c.1867T>G (p.Ser623Ala)
|
|
|
NM_004999.4(MYO6):c.188-19T>G
|
|
|
NM_004999.4(MYO6):c.188-1G>T
|
|
|
NM_004999.4(MYO6):c.1881CAA[1] (p.Asn628del)
|
rs1233700794
|
|
NM_004999.4(MYO6):c.1885A>G (p.Lys629Glu)
|
|
|
NM_004999.4(MYO6):c.1921A>G (p.Ile641Val)
|
rs1554213104
|
|
NM_004999.4(MYO6):c.1935C>A (p.Asn645Lys)
|
rs2149313117
|
|
NM_004999.4(MYO6):c.1939T>C (p.Phe647Leu)
|
rs752585373
|
|
NM_004999.4(MYO6):c.1944+18T>G
|
|
|
NM_004999.4(MYO6):c.1944+27dup
|
rs754309380
|
|
NM_004999.4(MYO6):c.1944+7G>A
|
|
|
NM_004999.4(MYO6):c.1944+7G>T
|
rs1265157032
|
|
NM_004999.4(MYO6):c.1945-2A>G
|
rs1554214085
|
|
NM_004999.4(MYO6):c.1945-3C>G
|
rs1285253674
|
|
NM_004999.4(MYO6):c.1975C>T (p.Arg659Ter)
|
rs1777073184
|
|
NM_004999.4(MYO6):c.1983+1G>A
|
rs2149321922
|
|
NM_004999.4(MYO6):c.1984-5C>T
|
|
|
NM_004999.4(MYO6):c.1992C>T (p.Ser664=)
|
|
|
NM_004999.4(MYO6):c.2030G>T (p.Ser677Ile)
|
rs771235729
|
|
NM_004999.4(MYO6):c.2060C>G (p.Ser687Cys)
|
rs765145836
|
|
NM_004999.4(MYO6):c.2060C>T (p.Ser687Phe)
|
|
|
NM_004999.4(MYO6):c.2063A>T (p.Gln688Leu)
|
rs1777294344
|
|
NM_004999.4(MYO6):c.2078-20G>T
|
|
|
NM_004999.4(MYO6):c.2078-2A>G
|
rs1777874560
|
|
NM_004999.4(MYO6):c.2103G>A (p.Met701Ile)
|
rs975737464
|
|
NM_004999.4(MYO6):c.2107G>C (p.Gly703Arg)
|
rs753163582
|
|
NM_004999.4(MYO6):c.2110G>C (p.Gly704Arg)
|
|
|
NM_004999.4(MYO6):c.2111dup (p.Tyr705fs)
|
rs397517045
|
|
NM_004999.4(MYO6):c.2117dup (p.Ser707fs)
|
|
|
NM_004999.4(MYO6):c.2135A>G (p.His712Arg)
|
|
|
NM_004999.4(MYO6):c.2149A>G (p.Met717Val)
|
rs2149343586
|
|
NM_004999.4(MYO6):c.2159A>T (p.Lys720Met)
|
|
|
NM_004999.4(MYO6):c.2164A>G (p.Met722Val)
|
rs2149343655
|
|
NM_004999.4(MYO6):c.2165T>C (p.Met722Thr)
|
|
|
NM_004999.4(MYO6):c.2170G>C (p.Asp724His)
|
rs397517046
|
|
NM_004999.4(MYO6):c.2183G>A (p.Arg728Lys)
|
|
|
NM_004999.4(MYO6):c.2209-2_2212del
|
|
|
NM_004999.4(MYO6):c.2218A>G (p.Lys740Glu)
|
rs2149343921
|
|
NM_004999.4(MYO6):c.221T>C (p.Leu74Pro)
|
|
|
NM_004999.4(MYO6):c.222C>G (p.Leu74=)
|
|
|
NM_004999.4(MYO6):c.222C>T (p.Leu74=)
|
rs1395892527
|
|
NM_004999.4(MYO6):c.2240dup (p.Asn747fs)
|
|
|
NM_004999.4(MYO6):c.2253T>G (p.Phe751Leu)
|
|
|
NM_004999.4(MYO6):c.2266G>A (p.Val756Ile)
|
rs864309590
|
|
NM_004999.4(MYO6):c.2267T>A (p.Val756Glu)
|
rs1777894570
|
|
NM_004999.4(MYO6):c.2274T>G (p.Phe758Leu)
|
|
|
NM_004999.4(MYO6):c.2284A>G (p.Lys762Glu)
|
rs886061762
|
|
NM_004999.4(MYO6):c.2287-255del
|
rs36036090
|
|
NM_004999.4(MYO6):c.2287-2A>G
|
rs2149347420
|
|
NM_004999.4(MYO6):c.2287-6_2287-5insTAG
|
rs2149347409
|
|
NM_004999.4(MYO6):c.2287-9A>G
|
|
|
NM_004999.4(MYO6):c.2307C>G (p.Ile769Met)
|
|
|
NM_004999.4(MYO6):c.2366C>T (p.Thr789Ile)
|
|
|
NM_004999.4(MYO6):c.2374C>T (p.Arg792Cys)
|
|
|
NM_004999.4(MYO6):c.2375G>A (p.Arg792His)
|
rs781458857
|
|
NM_004999.4(MYO6):c.2397C>A (p.Cys799Ter)
|
rs2149347766
|
|
NM_004999.4(MYO6):c.2410A>G (p.Ile804Val)
|
|
|
NM_004999.4(MYO6):c.2416+1G>A
|
|
|
NM_004999.4(MYO6):c.2416+2T>C
|
|
|
NM_004999.4(MYO6):c.2417-1758T>G
|
rs1562283089
|
|
NM_004999.4(MYO6):c.2417-1G>A
|
|
|
NM_004999.4(MYO6):c.2417-7C>T
|
|
|
NM_004999.4(MYO6):c.2430A>G (p.Ile810Met)
|
rs1354902174
|
|
NM_004999.4(MYO6):c.2437C>T (p.Arg813Ter)
|
|
|
NM_004999.4(MYO6):c.2442_2445dup (p.Ala816Ter)
|
|
|
NM_004999.4(MYO6):c.2462A>G (p.Gln821Arg)
|
rs1778410002
|
|
NM_004999.4(MYO6):c.2473C>T (p.Arg825Ter)
|
|
|
NM_004999.4(MYO6):c.2474G>A (p.Arg825Gln)
|
|
|
NM_004999.4(MYO6):c.2507+12A>G
|
rs1214613190
|
|
NM_004999.4(MYO6):c.2507+19A>G
|
|
|
NM_004999.4(MYO6):c.2508-19T>C
|
|
|
NM_004999.4(MYO6):c.2539A>C (p.Lys847Gln)
|
|
|
NM_004999.4(MYO6):c.2544_2545del (p.Arg849fs)
|
rs2149358928
|
|
NM_004999.4(MYO6):c.2544dup (p.Arg849fs)
|
|
|
NM_004999.4(MYO6):c.2545C>G (p.Arg849Gly)
|
|
|
NM_004999.4(MYO6):c.2548C>G (p.Leu850Val)
|
rs397517047
|
|
NM_004999.4(MYO6):c.2560A>G (p.Asn854Asp)
|
rs2149358961
|
|
NM_004999.4(MYO6):c.2561A>G (p.Asn854Ser)
|
|
|
NM_004999.4(MYO6):c.2562T>A (p.Asn854Lys)
|
rs1583365903
|
|
NM_004999.4(MYO6):c.2566G>T (p.Val856Leu)
|
|
|
NM_004999.4(MYO6):c.256del (p.Ile86fs)
|
|
|
NM_004999.4(MYO6):c.2571_2574del (p.Ser858fs)
|
rs2149359004
|
|
NM_004999.4(MYO6):c.2585A>G (p.Asp862Gly)
|
|
|
NM_004999.4(MYO6):c.258_259delinsCTTTACTAAA (p.Tyr87fs)
|
rs1583208411
|
|
NM_004999.4(MYO6):c.2632A>G (p.Ile878Val)
|
|
|
NM_004999.4(MYO6):c.2639_2649delinsGAAATTAAGGTATGTAATTAAGGTATGT (p.Thr880_Ala883delinsArgAsnTer)
|
|
|
NM_004999.4(MYO6):c.264A>G (p.Thr88=)
|
|
|
NM_004999.4(MYO6):c.2659-127_2659-125del
|
rs148937506
|
|
NM_004999.4(MYO6):c.2692del (p.Glu898fs)
|
|
|
NM_004999.4(MYO6):c.2696A>G (p.Tyr899Cys)
|
|
|
NM_004999.4(MYO6):c.2717C>A (p.Ser906Ter)
|
rs1554218566
|
|
NM_004999.4(MYO6):c.2726_2727delinsAA (p.Leu909Gln)
|
rs2149367706
|
|
NM_004999.4(MYO6):c.2733T>C (p.Ser911=)
|
rs1554218577
|
|
NM_004999.4(MYO6):c.2751dup (p.Gln918fs)
|
rs551348450
|
|
NM_004999.4(MYO6):c.275A>G (p.Asn92Ser)
|
|
|
NM_004999.4(MYO6):c.2761G>T (p.Glu921Ter)
|
rs770092845
|
|
NM_004999.4(MYO6):c.2762A>G (p.Glu921Gly)
|
|
|
NM_004999.4(MYO6):c.2770G>A (p.Glu924Lys)
|
rs1562290993
|
|
NM_004999.4(MYO6):c.2777T>A (p.Leu926Gln)
|
rs2149367858
|
|
NM_004999.4(MYO6):c.2779A>G (p.Arg927Gly)
|
rs986223790
|
|
NM_004999.4(MYO6):c.2787T>G (p.Ile929Met)
|
rs886061763
|
|
NM_004999.4(MYO6):c.2795A>G (p.Glu932Gly)
|
|
|
NM_004999.4(MYO6):c.2800G>T (p.Glu934Ter)
|
|
|
NM_004999.4(MYO6):c.2804A>G (p.Lys935Arg)
|
|
|
NM_004999.4(MYO6):c.2810G>T (p.Arg937Ile)
|
|
|
NM_004999.4(MYO6):c.2814_2815del (p.Arg939fs)
|
rs876657709
|
|
NM_004999.4(MYO6):c.2839C>T (p.Arg947Ter)
|
rs876657653
|
|
NM_004999.4(MYO6):c.2857G>A (p.Glu953Lys)
|
|
|
NM_004999.4(MYO6):c.2863C>T (p.Arg955Trp)
|
|
|
NM_004999.4(MYO6):c.2866A>G (p.Met956Val)
|
rs2149368221
|
|
NM_004999.4(MYO6):c.2867+1G>A
|
rs2149368227
|
|
NM_004999.4(MYO6):c.286G>A (p.Ala96Thr)
|
rs777778726
|
|
NM_004999.4(MYO6):c.2872C>G (p.Leu958Val)
|
|
|
NM_004999.4(MYO6):c.2881G>A (p.Glu961Lys)
|
|
|
NM_004999.4(MYO6):c.2891G>T (p.Arg964Ile)
|
|
|
NM_004999.4(MYO6):c.2896C>G (p.Gln966Glu)
|
|
|
NM_004999.4(MYO6):c.2898AGA[3] (p.Glu970del)
|
rs727504743
|
|
NM_004999.4(MYO6):c.2906A>G (p.Glu969Gly)
|
|
|
NM_004999.4(MYO6):c.2911A>G (p.Arg971Gly)
|
rs397517049
|
|
NM_004999.4(MYO6):c.292A>G (p.Asn98Asp)
|
rs876657910
|
|
NM_004999.4(MYO6):c.2937A>C (p.Lys979Asn)
|
|
|
NM_004999.4(MYO6):c.2938C>T (p.Arg980Cys)
|
|
|
NM_004999.4(MYO6):c.2939G>A (p.Arg980His)
|
|
|
NM_004999.4(MYO6):c.2946+16G>T
|
|
|
NM_004999.4(MYO6):c.2972G>A (p.Arg991Gln)
|
rs529167250
|
|
NM_004999.4(MYO6):c.2972G>T (p.Arg991Leu)
|
rs529167250
|
|
NM_004999.4(MYO6):c.3005T>A (p.Val1002Asp)
|
|
|
NM_004999.4(MYO6):c.3017A>T (p.Glu1006Val)
|
rs1321745586
|
|
NM_004999.4(MYO6):c.3040dup (p.Leu1014fs)
|
|
|
NM_004999.4(MYO6):c.3076G>C (p.Asp1026His)
|
|
|
NM_004999.4(MYO6):c.3099G>T (p.Ala1033=)
|
|
|
NM_004999.4(MYO6):c.3103C>A (p.Arg1035=)
|
rs551471138
|
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NM_004999.4(MYO6):c.3103C>T (p.Arg1035Trp)
|
|
|
NM_004999.4(MYO6):c.3107+19G>A
|
rs538399704
|
|
NM_004999.4(MYO6):c.3107+19G>T
|
|
|
NM_004999.4(MYO6):c.3107+279_3107+282del
|
rs549109013
|
|
NM_004999.4(MYO6):c.3137+1G>A
|
rs200713129
|
|
NM_004999.4(MYO6):c.3137+274dup
|
rs372759632
|
|
NM_004999.4(MYO6):c.3138-107T>A
|
rs720862
|
|
NM_004999.4(MYO6):c.3138-4G>A
|
|
|
NM_004999.4(MYO6):c.3142C>T (p.Gln1048Ter)
|
rs918013766
|
|
NM_004999.4(MYO6):c.3176+14A>C
|
|
|
NM_004999.4(MYO6):c.3176G>A (p.Arg1059Lys)
|
|
|
NM_004999.4(MYO6):c.3177-138A>G
|
rs111606661
|
|
NM_004999.4(MYO6):c.3177-15G>A
|
|
|
NM_004999.4(MYO6):c.3177-3C>T
|
rs747051401
|
|
NM_004999.4(MYO6):c.3185C>G (p.Ala1062Gly)
|
|
|
NM_004999.4(MYO6):c.3197C>T (p.Thr1066Ile)
|
rs1312339926
|
|
NM_004999.4(MYO6):c.3198C>T (p.Thr1066=)
|
rs143864052
|
|
NM_004999.4(MYO6):c.3200A>C (p.Lys1067Thr)
|
|
|
NM_004999.4(MYO6):c.3207T>C (p.Ala1069=)
|
rs727505051
|
|
NM_004999.4(MYO6):c.3207_3212delinsATCCTACATACTTAAAATTTCTT (p.Ala1070fs)
|
rs727505015
|
|
NM_004999.4(MYO6):c.3235A>G (p.Lys1079Glu)
|
|
|
NM_004999.4(MYO6):c.3256_3257dup (p.Asp1087fs)
|
rs2149415255
|
|
NM_004999.4(MYO6):c.3270T>C (p.Asn1090=)
|
rs139395133
|
|
NM_004999.4(MYO6):c.3278G>A (p.Cys1093Tyr)
|
|
|
NM_004999.4(MYO6):c.3280+232G>A
|
rs72674546
|
|
NM_004999.4(MYO6):c.3280+3_3280+6del
|
|
|
NM_004999.4(MYO6):c.3280+87TG[12]
|
rs71002774
|
|
NM_004999.4(MYO6):c.3280+87TG[13]
|
rs71002774
|
|
NM_004999.4(MYO6):c.3280+87TG[15]
|
rs71002774
|
|
NM_004999.4(MYO6):c.3280+87TG[16]
|
rs71002774
|
|
NM_004999.4(MYO6):c.3281-18G>A
|
|
|
NM_004999.4(MYO6):c.3281-18G>T
|
rs75371739
|
|
NM_004999.4(MYO6):c.3288G>A (p.Glu1096=)
|
|
|
NM_004999.4(MYO6):c.3301T>G (p.Cys1101Gly)
|
|
|
NM_004999.4(MYO6):c.3321G>A (p.Arg1107=)
|
|
|
NM_004999.4(MYO6):c.3326T>C (p.Leu1109Pro)
|
rs1554222430
|
|
NM_004999.4(MYO6):c.3331G>A (p.Val1111Met)
|
|
|
NM_004999.4(MYO6):c.3340dup (p.Ala1114fs)
|
|
|
NM_004999.4(MYO6):c.3376del (p.Thr1126fs)
|
|
|
NM_004999.4(MYO6):c.3391C>T (p.Pro1131Ser)
|
rs727503327
|
|
NM_004999.4(MYO6):c.3412+8G>C
|
|
|
NM_004999.4(MYO6):c.3413-20C>T
|
|
|
NM_004999.4(MYO6):c.3430A>G (p.Asn1144Asp)
|
rs794727568
|
|
NM_004999.4(MYO6):c.3439+13G>T
|
rs1362707127
|
|
NM_004999.4(MYO6):c.3439+14T>G
|
|
|
NM_004999.4(MYO6):c.344_345del (p.Tyr115fs)
|
rs1554204415
|
|
NM_004999.4(MYO6):c.3506G>T (p.Arg1169Leu)
|
|
|
NM_004999.4(MYO6):c.3518T>C (p.Ile1173Thr)
|
rs2149433527
|
|
NM_004999.4(MYO6):c.3520C>T (p.Pro1174Ser)
|
|
|
NM_004999.4(MYO6):c.352A>G (p.Lys118Glu)
|
|
|
NM_004999.4(MYO6):c.3531C>T (p.Arg1177=)
|
|
|
NM_004999.4(MYO6):c.3567A>G (p.Lys1189=)
|
|
|
NM_004999.4(MYO6):c.3577T>C (p.Trp1193Arg)
|
rs2149433689
|
|
NM_004999.4(MYO6):c.3586C>G (p.His1196Asp)
|
rs2149433696
|
|
NM_004999.4(MYO6):c.359T>C (p.Leu120Pro)
|
|
|
NM_004999.4(MYO6):c.3607G>T (p.Ala1203Ser)
|
|
|
NM_004999.4(MYO6):c.3610C>T (p.Arg1204Trp)
|
rs876657911
|
|
NM_004999.4(MYO6):c.3623_3640del (p.Leu1208_Pro1213del)
|
rs2149433811
|
|
NM_004999.4(MYO6):c.3631G>A (p.Asp1211Asn)
|
|
|
NM_004999.4(MYO6):c.3644T>C (p.Ile1215Thr)
|
rs1554223853
|
|
NM_004999.4(MYO6):c.3646C>G (p.Leu1216Val)
|
rs876657908
|
|
NM_004999.4(MYO6):c.3659-5T>C
|
|
|
NM_004999.4(MYO6):c.36dup (p.Thr13fs)
|
rs1562201376
|
|
NM_004999.4(MYO6):c.3712C>G (p.Arg1238Gly)
|
|
|
NM_004999.4(MYO6):c.3715A>T (p.Lys1239Ter)
|
|
|
NM_004999.4(MYO6):c.3718_3719del (p.Arg1240fs)
|
rs1781031440
|
|
NM_004999.4(MYO6):c.3723T>C (p.Gly1241=)
|
|
|
NM_004999.4(MYO6):c.3742C>G (p.Gln1248Glu)
|
|
|
NM_004999.4(MYO6):c.3762A>G (p.Glu1254=)
|
|
|
NM_004999.4(MYO6):c.3764G>A (p.Arg1255His)
|
rs751099407
|
|
NM_004999.4(MYO6):c.3765del (p.Cys1256fs)
|
rs1582024232
|
|
NM_004999.4(MYO6):c.3818C>T (p.Pro1273Leu)
|
rs142424695
|
|
NM_004999.4(MYO6):c.3821C>T (p.Thr1274Ile)
|
|
|
NM_004999.4(MYO6):c.3822C>A (p.Thr1274=)
|
|
|
NM_004999.4(MYO6):c.3833C>T (p.Ala1278Val)
|
rs397517052
|
|
NM_004999.4(MYO6):c.3840G>A (p.Leu1280=)
|
rs1257266201
|
|
NM_004999.4(MYO6):c.3844_3845del (p.Leu1283fs)
|
|
|
NM_004999.4(MYO6):c.3845G>T (p.Ser1282Ile)
|
|
|
NM_004999.4(MYO6):c.3851dup (p.Leu1284fs)
|
|
|
NM_004999.4(MYO6):c.391+3_391+6del
|
rs2150213297
|
|
NM_004999.4(MYO6):c.392-20A>G
|
|
|
NM_004999.4(MYO6):c.412A>G (p.Met138Val)
|
|
|
NM_004999.4(MYO6):c.458C>G (p.Ser153Ter)
|
rs876657710
|
|
NM_004999.4(MYO6):c.467G>A (p.Gly156Asp)
|
|
|
NM_004999.4(MYO6):c.470A>G (p.Lys157Arg)
|
rs397517053
|
|
NM_004999.4(MYO6):c.473C>G (p.Thr158Arg)
|
|
|
NM_004999.4(MYO6):c.4G>A (p.Glu2Lys)
|
rs2150167197
|
|
NM_004999.4(MYO6):c.522A>G (p.Thr174=)
|
|
|
NM_004999.4(MYO6):c.535G>T (p.Asp179Tyr)
|
rs1554205683
|
|
NM_004999.4(MYO6):c.536A>G (p.Asp179Gly)
|
|
|
NM_004999.4(MYO6):c.539A>C (p.Asp180Ala)
|
|
|
NM_004999.4(MYO6):c.542G>A (p.Arg181Lys)
|
|
|
NM_004999.4(MYO6):c.548T>A (p.Val183Asp)
|
rs1060499650
|
|
NM_004999.4(MYO6):c.553+17A>G
|
|
|
NM_004999.4(MYO6):c.554-1G>A
|
|
|
NM_004999.4(MYO6):c.554-42C>G
|
rs113249518
|
|
NM_004999.4(MYO6):c.554-4A>G
|
|
|
NM_004999.4(MYO6):c.558C>A (p.Asn186Lys)
|
rs397517054
|
|
NM_004999.4(MYO6):c.560del (p.Pro187fs)
|
rs2150249865
|
|
NM_004999.4(MYO6):c.584C>A (p.Ala195Glu)
|
rs772421255
|
|
NM_004999.4(MYO6):c.605A>G (p.Asn202Ser)
|
rs886061760
|
|
NM_004999.4(MYO6):c.613C>T (p.Arg205Ter)
|
|
|
NM_004999.4(MYO6):c.614G>A (p.Arg205Gln)
|
rs2150250121
|
|
NM_004999.4(MYO6):c.61A>G (p.Ile21Val)
|
rs546375259
|
|
NM_004999.4(MYO6):c.628G>A (p.Val210Ile)
|
|
|
NM_004999.4(MYO6):c.634A>G (p.Ile212Val)
|
|
|
NM_004999.4(MYO6):c.652-9G>T
|
|
|
NM_004999.4(MYO6):c.667G>A (p.Gly223Arg)
|
|
|
NM_004999.4(MYO6):c.728G>T (p.Arg243Ile)
|
|
|
NM_004999.4(MYO6):c.737A>G (p.His246Arg)
|
rs121912560
|
|
NM_004999.4(MYO6):c.78del (p.Asp27fs)
|
rs1771411002
|
|
NM_004999.4(MYO6):c.790_795delinsAA (p.His264fs)
|
rs1554207040
|
|
NM_004999.4(MYO6):c.798T>G (p.Ser266Arg)
|
rs1398124041
|
|
NM_004999.4(MYO6):c.816+157del
|
rs770670898
|
|
NM_004999.4(MYO6):c.817-1G>A
|
rs1057523846
|
|
NM_004999.4(MYO6):c.835A>T (p.Thr279Ser)
|
rs2150265571
|
|
NM_004999.4(MYO6):c.853A>G (p.Lys285Glu)
|
|
|
NM_004999.4(MYO6):c.854_855del (p.Lys285fs)
|
|
|
NM_004999.4(MYO6):c.866_869del (p.Lys289fs)
|
rs749752357
|
|
NM_004999.4(MYO6):c.884G>A (p.Arg295His)
|
|
|
NM_004999.4(MYO6):c.897+177_897+179del
|
|
|
NM_004999.4(MYO6):c.897+19C>G
|
|
|
NM_004999.4(MYO6):c.897G>T (p.Glu299Asp)
|
rs1060499799
|
|
NM_004999.4(MYO6):c.917T>C (p.Met306Thr)
|
rs2150278897
|
|
NM_004999.4(MYO6):c.922G>C (p.Asp308His)
|
rs764615017
|
|
NM_004999.4(MYO6):c.926C>G (p.Pro309Arg)
|
|
|
NM_004999.4(MYO6):c.933A>G (p.Leu311=)
|
|
|
NM_004999.4(MYO6):c.951T>C (p.Phe317=)
|
rs397517055
|
|
NM_004999.4(MYO6):c.993T>A (p.Asp331Glu)
|
rs757488387
|
|